Human Mutation

Cover image for Human Mutation

May 2006

Volume 27, Issue 5

Pages 391–503

  1. Review Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Genes and loci involved in febrile seizures and related epilepsy syndromes (pages 391–401)

      Dominique Audenaert, Christine Van Broeckhoven and Peter De Jonghe

      Version of Record online: 20 MAR 2006 | DOI: 10.1002/humu.20279

  2. Databases

    1. Top of page
    2. Review Articles
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. You have free access to this content
      Mutational data integration in gene-oriented files of the Hermansky-Pudlak Syndrome database (pages 402–407)

      Wei Li, Min He, Helin Zhou, Jonathan W. Bourne and Ping Liang

      Version of Record online: 20 MAR 2006 | DOI: 10.1002/humu.20309

  3. Rapid Communications

    1. Top of page
    2. Review Articles
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Confirmation of the origin of NISCH syndrome (pages 408–410)

      L. Feldmeyer, M. Huber, F. Fellmann, J.S. Beckmann, E. Frenk and D. Hohl

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20333

  4. Research Articles

    1. Top of page
    2. Review Articles
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Interaction between IL1B gene promoter polymorphisms in determining susceptibility to Helicobacter pylori associated duodenal ulcer (pages 411–419)

      Meenakshi Chakravorty, Arunima Ghosh, Abhijit Choudhury, Amal Santra, Jobaranjan Hembrum and Susanta Roychoudhury

      Version of Record online: 20 MAR 2006 | DOI: 10.1002/humu.20299

    2. Aberrant splicing in the ocular albinism type 1 gene (OA1/GPR143) is corrected in vitro by morpholino antisense oligonucleotides (pages 420–426)

      Francesco Vetrini, Roberta Tammaro, Sergio Bondanza, Enrico M. Surace, Alberto Auricchio, Michele De Luca, Andrea Ballabio and Valeria Marigo

      Version of Record online: 20 MAR 2006 | DOI: 10.1002/humu.20303

    3. Intronic alterations in BRCA1 and BRCA2: effect on mRNA splicing fidelity and expression (pages 427–435)

      Xiaowei Chen, Tuyet-Trinh N. Truong, JoEllen Weaver, Betsy A. Bove, Kimberly Cattie, Brock A. Armstrong, Mary B. Daly and Andrew K. Godwin

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20319

    4. Jagged1 (JAG1) mutations in Alagille syndrome: increasing the mutation detection rate (pages 436–443)

      DM Warthen, EC Moore, BM Kamath, JJD Morrissette, P Sanchez, DA Piccoli, ID Krantz and NB Spinner

      Version of Record online: 30 MAR 2006 | DOI: 10.1002/humu.20310

      Corrected by:

      Errata: Jagged1 (JAG1) Mutations in Alagille Syndrome: Increasing the Mutation Detection Rate

      Vol. 34, Issue 2, 408, Version of Record online: 20 DEC 2012

    5. Denaturing temperature selection may underestimate keratin mutation detection by DHPLC (pages 444–452)

      Pavel Strnad, Tim Christian Lienau, Guo-Zhong Tao, Nam-On Ku, Thomas M. Magin and M. Bishr Omary

      Version of Record online: 30 MAR 2006 | DOI: 10.1002/humu.20311

    6. The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation (pages 453–459)

      Jeroen van Reeuwijk, Svetlana Maugenre, Christa van den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney and Hans van Bokhoven

      Version of Record online: 30 MAR 2006 | DOI: 10.1002/humu.20313

    7. Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays (pages 467–473)

      Jeffrey E. Ming, Elizabeth Geiger, Alison C. James, Karen L. Ciprero, Manjunath Nimmakayalu, Yi Zhang, Andrew Huang, Madhavi Vaddi, Eric Rappaport, Elaine H. Zackai and Tamim H. Shaikh

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20322

    8. Double-strand DNA break repair with replication slippage on two strands: a novel mechanism of deletion formation (pages 483–489)

      Helen E. MacLean, Jenny M. Favaloro, Garry L. Warne and Jeffrey D. Zajac

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20327

  5. Methods

    1. Top of page
    2. Review Articles
    3. Databases
    4. Rapid Communications
    5. Research Articles
    6. Methods
    1. Long-range PCR facilitates the identification of PMS2-specific mutations (pages 490–495)

      Mark Clendenning, Heather Hampel, Jennifer LaJeunesse, Annika Lindblom, Jan Lockman, Mef Nilbert, Leigha Senter, Kaisa Sotamaa and Albert de la Chapelle

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20318

    2. Optimization and evaluation of single-cell whole-genome multiple displacement amplification (pages 496–503)

      C. Spits, C. Le Caignec, M. De Rycke, L. Van Haute, A. Van Steirteghem, I. Liebaers and K. Sermon

      Version of Record online: 17 APR 2006 | DOI: 10.1002/humu.20324

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